Atypical Presentation of Primary Myelofibrosis with Calreticulin (CALR) Mutation: A Case Report from a Single Referral Centre in Malaysia
Keywords:
Primary Myelofibrosis, Calreticulin mutation, BCR-ABL1 transcriptAbstract
Primary myelofibrosis (PMF) is a clonal myeloproliferative neoplasm (MPN) characterized by a proliferation of predominantly megakaryocytes and granulocytes in the bone marrow, which in fully developed disease is associated with reactive deposition of fibrous connective tissue and extramedullary hematopoiesis. Approximately 60% of PMF cases carry JAK2 V617F, about 30% of cases have CALR mutation, 8% positive for MPL and 12% of cases are triple negative for these mutations. The laboratory findings in PMF are quite diverse and ranges from leukocytosis and thrombocytosis in early stage of the disease to marked pancytopenia, leukoerythroblastic blood film, tear drop poikilocytosis and severe fibrosis with diffuse osteosclerosis in trephine bone marrow biopsy in later stage of the disease. Here we described unusual laboratory presentation of PMF with CALR gene mutation with hematological and morphological features of chronic myeloid leukemia but molecular analysis for BCR-ABL1 transcript was negative.
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